Daly is considered a pioneer in the field of human genetics, and is amongst the most cited scientists in the field,[5] and one of the top 100 most cited scientists of all time.[6] He was elected to the National Academy of Medicine in 2017.[7]
Education
Daly studied physics at MIT, although he initially wanted to become a lawyer or poker player, he joined Eric Lander as a freshman.[8] Mark continued to work with Lander, before eventually receiving his PhD from Leiden University in 2004.
Research
Daly trained with Eric Lander at the Whitehead Institute, and most of his initial efforts were to map haplotypes across the human genome. During his time there, his team developed MapMaker, GeneHunter, Haploview, PLINK, and GATK. Collectively these tools have received over 30,000 citations. As genome sequencing has become cheaper, his group works on developing statistical methods to implicate genetic mutations in neuropsychiatric diseases.[9][10]
^Daly, Mark J.; Rioux, John D.; Schaffner, Stephen F.; Hudson, Thomas J.; Lander, Eric S. (1 October 2001). "High-resolution haplotype structure in the human genome". Nature Genetics. 29 (2): 229–232. doi:10.1038/ng1001-229. PMID11586305. S2CID9619343.
^Neale, Benjamin M.; Kou, Yan; Liu, Li; Ma'ayan, Avi; Samocha, Kaitlin E.; Sabo, Aniko; Lin, Chiao-Feng; Stevens, Christine; Wang, Li-San; Makarov, Vladimir; Polak, Paz; Yoon, Seungtai; Maguire, Jared; Crawford, Emily L.; Campbell, Nicholas G.; Geller, Evan T.; Valladares, Otto; Shafer, Chad; Liu, Han; Zhao, Tuo; Cai, Guiqing; Lihm, Jayon; Dannenfelser, Ruth; Jabado, Omar; Peralta, Zuleyma; Nagaswamy, Uma; Muzny, Donna; Reid, Jeffrey G.; Newsham, Irene; Wu, Yuanqing; Lewis, Lora; Han, Yi; Voight, Benjamin F.; Lim, Elaine; Rossin, Elizabeth; Kirby, Andrew; Flannick, Jason; Fromer, Menachem; Shakir, Khalid; Fennell, Tim; Garimella, Kiran; Banks, Eric; Poplin, Ryan; Gabriel, Stacey; DePristo, Mark; Wimbish, Jack R.; Boone, Braden E.; Levy, Shawn E.; Betancur, Catalina; Sunyaev, Shamil; Boerwinkle, Eric; Buxbaum, Joseph D.; Cook, Edwin H.; Devlin, Bernie; Gibbs, Richard A.; Roeder, Kathryn; Schellenberg, Gerard D.; Sutcliffe, James S.; Daly, Mark J. (4 April 2012). "Patterns and rates of exonic de novo mutations in autism spectrum disorders". Nature. 485 (7397): 242–245. Bibcode:2012Natur.485..242N. doi:10.1038/nature11011. PMC3613847. PMID22495311.
^Samocha, Kaitlin E.; Robinson, Elise B.; Sanders, Stephan J.; Stevens, Christine; Sabo, Aniko; McGrath, Lauren M.; Kosmicki, Jack A.; Rehnström, Karola; Mallick, Swapan; Kirby, Andrew; Wall, Dennis P.; MacArthur, Daniel G.; Gabriel, Stacey B.; DePristo, Mark; Purcell, Shaun M.; Palotie, Aarno; Boerwinkle, Eric; Buxbaum, Joseph D.; Cook Jr, Edwin H.; Gibbs, Richard A.; Schellenberg, Gerard D.; Sutcliffe, James S.; Devlin, Bernie; Roeder, Kathryn; Neale, Benjamin M.; Daly, Mark J. (1 September 2014). "A framework for the interpretation of de novo mutation in human disease". Nature Genetics. 46 (9): 944–950. doi:10.1038/ng.3050. PMC4222185. PMID25086666.